Canonical Allele Identifier: CA1365145594
Gene:

Linked Data

dbSNP Id: rs1700427364
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056951T>G , CM000665.2:g.53056951T>G GRCh38
NC_000003.11:g.53090967T>G , CM000665.1:g.53090967T>G GRCh37
NC_000003.10:g.53066007T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9712A>C
ENST00000607283.5:c.465-13697A>C
ENST00000607495.5:c.447+20737A>C
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